Incidental Mutation 'IGL03388:Nxf7'
ID 420928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxf7
Ensembl Gene ENSMUSG00000031410
Gene Name nuclear RNA export factor 7
Synonyms nxf-a2, nfx-a1
Accession Numbers
Essential gene? Not available question?
Stock # IGL03388
Quality Score
Status
Chromosome X
Chromosomal Location 134480304-134499526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134485489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 440 (K440E)
Ref Sequence ENSEMBL: ENSMUSP00000108788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033784] [ENSMUST00000113163] [ENSMUST00000141310] [ENSMUST00000150900]
AlphaFold Q80SZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000033784
AA Change: K440E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033784
Gene: ENSMUSG00000031410
AA Change: K440E

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 116 203 1.9e-42 PFAM
low complexity region 269 280 N/A INTRINSIC
Pfam:LRR_4 294 346 9.2e-8 PFAM
Pfam:NTF2 389 537 1.1e-12 PFAM
TAP_C 557 620 5.03e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113163
AA Change: K440E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108788
Gene: ENSMUSG00000031410
AA Change: K440E

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 119 202 4.8e-37 PFAM
low complexity region 269 280 N/A INTRINSIC
Pfam:NTF2 389 537 1.8e-12 PFAM
TAP_C 557 620 5.03e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127202
Predicted Effect unknown
Transcript: ENSMUST00000137977
AA Change: K294E
SMART Domains Protein: ENSMUSP00000122993
Gene: ENSMUSG00000031410
AA Change: K294E

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 10 93 9.6e-38 PFAM
Pfam:NTF2 244 392 2.6e-13 PFAM
TAP_C 412 475 5.03e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141310
SMART Domains Protein: ENSMUSP00000117622
Gene: ENSMUSG00000031410

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 106 127 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150900
SMART Domains Protein: ENSMUSP00000119764
Gene: ENSMUSG00000031410

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 106 156 1.3e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,693,596 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,801 (GRCm39) K340R possibly damaging Het
Ccr3 A G 9: 123,828,658 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,992 (GRCm39) probably benign Het
Clasp1 T A 1: 118,433,233 (GRCm39) D237E possibly damaging Het
Ddx18 T C 1: 121,493,652 (GRCm39) K111E possibly damaging Het
Defa21 T C 8: 21,515,764 (GRCm39) L54P probably damaging Het
Dennd3 T C 15: 73,416,208 (GRCm39) V486A probably damaging Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnm1l A G 16: 16,131,916 (GRCm39) probably benign Het
Epb41 T C 4: 131,702,105 (GRCm39) Y510C probably damaging Het
Fat4 T C 3: 39,011,376 (GRCm39) Y2159H probably damaging Het
Fmo1 A G 1: 162,663,716 (GRCm39) V271A probably benign Het
Gm12185 A G 11: 48,799,113 (GRCm39) V460A probably benign Het
Hspa8 T C 9: 40,716,224 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,356 (GRCm39) E166G probably damaging Het
Il31ra C A 13: 112,682,746 (GRCm39) S120I probably damaging Het
Kdm5b A G 1: 134,555,060 (GRCm39) T1323A probably benign Het
Lgals9 T A 11: 78,854,247 (GRCm39) I346F probably damaging Het
Lgi2 T C 5: 52,695,819 (GRCm39) D372G probably damaging Het
Magi3 A C 3: 103,923,157 (GRCm39) S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 (GRCm38) F203S probably benign Het
Nup210l G A 3: 90,077,351 (GRCm39) V896I probably damaging Het
Or6c206 A T 10: 129,097,312 (GRCm39) I161F probably benign Het
Or9i1b T A 19: 13,896,984 (GRCm39) V200D probably damaging Het
Pcdhb6 T C 18: 37,469,190 (GRCm39) S20P probably damaging Het
Per2 G T 1: 91,372,511 (GRCm39) probably benign Het
Pi15 G A 1: 17,673,001 (GRCm39) A67T probably benign Het
Pnp2 A T 14: 51,200,995 (GRCm39) N160I probably damaging Het
Ppp1r12c A G 7: 4,485,069 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,561,093 (GRCm39) probably null Het
Rnf115 G A 3: 96,695,984 (GRCm39) V257M probably damaging Het
Rtkn T A 6: 83,127,071 (GRCm39) V346D probably benign Het
Rubcn A T 16: 32,661,938 (GRCm39) N427K probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sel1l2 A C 2: 140,105,284 (GRCm39) probably benign Het
Septin4 T A 11: 87,459,042 (GRCm39) L472* probably null Het
Slc5a5 A G 8: 71,342,972 (GRCm39) V196A probably benign Het
Sox13 A T 1: 133,316,686 (GRCm39) L207H probably damaging Het
Tmtc2 A G 10: 105,157,344 (GRCm39) probably benign Het
Trip12 T C 1: 84,720,907 (GRCm39) K1409R probably damaging Het
Ttn C T 2: 76,797,481 (GRCm39) A528T probably benign Het
Ubr4 T C 4: 139,142,343 (GRCm39) I1310T probably damaging Het
Ypel5 T C 17: 73,153,400 (GRCm39) F35L probably damaging Het
Zfp13 G T 17: 23,795,888 (GRCm39) R228S probably benign Het
Other mutations in Nxf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02901:Nxf7 APN X 134,487,984 (GRCm39) critical splice donor site probably null
IGL02965:Nxf7 APN X 134,490,159 (GRCm39) missense probably damaging 1.00
R0389:Nxf7 UTSW X 134,485,132 (GRCm39) missense possibly damaging 0.58
R8813:Nxf7 UTSW X 134,484,515 (GRCm39) missense possibly damaging 0.78
Z1177:Nxf7 UTSW X 134,488,774 (GRCm39) missense probably benign
Posted On 2016-08-02